FBRS

fibrosin

Basic information

Region (hg38): 16:30658431-30670810

Previous symbols: [ "FBS1" ]

Links

ENSG00000156860 ∙ NCBI:64319 ∙ OMIM:608601 ∙ HGNC:20442 ∙ Uniprot:Q9HAH7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FBRS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBRS gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			51			51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	51	2	0

Variants in FBRS

This is a list of pathogenic ClinVar variants found in the FBRS region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
16-30659944-C-T			Likely benign (Aug 01, 2023)
16-30665077-A-G		not specified	Uncertain significance (Jan 15, 2025)
16-30665313-C-T		not specified	Uncertain significance (Nov 24, 2024)
16-30665327-G-A		not specified	Uncertain significance (Sep 15, 2021)
16-30665358-C-T		not specified	Uncertain significance (Dec 06, 2024)
16-30665648-C-A		not specified	Uncertain significance (Aug 10, 2021)
16-30665651-A-G		not specified	Uncertain significance (Aug 15, 2023)
16-30665663-G-A		not specified	Uncertain significance (Oct 25, 2022)
16-30665681-G-A		not specified	Uncertain significance (Aug 27, 2024)
16-30665683-G-A		not specified	Uncertain significance (Dec 07, 2021)
16-30666528-G-A		not specified	Uncertain significance (May 16, 2024)
16-30666979-G-A		not specified	Uncertain significance (Dec 23, 2024)
16-30667333-A-G		not specified	Uncertain significance (Dec 19, 2023)
16-30667369-C-T		not specified	Uncertain significance (Jul 26, 2024)
16-30667432-C-G		not specified	Uncertain significance (Jun 30, 2022)
16-30667547-G-A		not specified	Uncertain significance (Feb 08, 2025)
16-30667553-G-A		not specified	Uncertain significance (Oct 26, 2022)
16-30667565-C-A		not specified	Uncertain significance (Jun 12, 2023)
16-30667571-A-G		not specified	Uncertain significance (Feb 20, 2025)
16-30667581-C-T		not specified	Uncertain significance (Dec 16, 2023)
16-30667592-G-A		not specified	Uncertain significance (Apr 27, 2022)
16-30667605-G-C		not specified	Uncertain significance (Mar 04, 2024)
16-30667620-T-C		not specified	Uncertain significance (Aug 28, 2024)
16-30668608-A-G		not specified	Uncertain significance (Jan 04, 2024)
16-30668622-G-A		Short stature	Likely pathogenic (Nov 18, 2001)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBRS	protein_coding	protein_coding	ENST00000356166	18	12384

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000128	124128	0	1	124129	0.00000403

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.764	434	481	0.902	0.0000312	5999
Missense in Polyphen		84	99.585	0.8435		1081
Synonymous	-1.84	257	222	1.16	0.0000158	2269
Loss of Function	4.90	1	29.9	0.0334	0.00000145	437

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000890	0.00000890
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.327
• hipred: N
• hipred_score: 0.455
• ghis: 0.536

Essentials

• essential_gene_CRISPR2: S
• gene_indispensability_pred: E
• gene_indispensability_score: 0.574

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fbrs

Gene ontology

• Biological process: regulation of signaling receptor activity;positive regulation of fibroblast proliferation
• Cellular component: extracellular space
• Molecular function: growth factor activity